Penetrance

Known as: Genetic Penetrance 
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and… (More)
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Review
2017
Review
2017
BACKGROUND Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from… (More)
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Highly Cited
2010
Highly Cited
2010
The phenotypic differences between individual organisms can often be ascribed to underlying genetic and environmental variation… (More)
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Highly Cited
2008
Highly Cited
2008
BACKGROUND Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The… (More)
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Highly Cited
2007
Highly Cited
2007
PURPOSE Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk… (More)
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Highly Cited
2007
Highly Cited
2007
D. Ford, D. F. Easton, M. Stratton, S. Narod, D. Goldgar, P. Devilee, D. T. Bishop, B. Weber, G. Lenoir, J. Chang-Claude, H… (More)
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Highly Cited
2006
Highly Cited
2006
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast… (More)
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Highly Cited
2001
Highly Cited
2001
A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in Ontario, Canada, during 1995-96 was… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or… (More)
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Highly Cited
1998
Highly Cited
1998
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families… (More)
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